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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Medical Genetics

Building Your Team: Specialists and Long-Term Care

At a Glance

Managing Leigh syndrome requires a multidisciplinary care team led by a metabolic geneticist and a neurologist. Coordinating multiple specialists, preparing an ER protocol for metabolic crises, and focusing on palliative symptom support are essential for maintaining quality of life.

Because Leigh syndrome can affect many different systems in the body at once, caring for yourself or your child requires a “team of teams.” A multidisciplinary approach is the standard of care, ensuring that every part of health—from the heart to hearing—is monitored by an expert [1][2].

Building Your Care Team

The team is typically anchored by a Metabolic or Mitochondrial Geneticist and a Neurologist [3][4]. Together, they oversee the “big picture” of the diagnosis and energy management.

Other essential specialists include:

  • Cardiologist: To monitor for cardiomyopathy (thickening of the heart muscle) or rhythm issues like Wolff-Parkinson-White syndrome, which can occur in Leigh syndrome [5][6].
  • Ophthalmologist: To check for optic atrophy (weakening of the nerve that helps you see) or ptosis (droopy eyelids) [7][8].
  • Gastroenterologist & Dietitian: To manage feeding difficulties, optimize nutrition, and monitor for swallowing issues (dysphagia) [3].
  • Pulmonologist: To support respiratory health, especially if the brainstem is affected, which can change breathing patterns [2].
  • Therapists (PT/OT/ST): Physical, occupational, and speech therapists help manage dystonia (muscle contractions) and maintain mobility and communication [9][10].

What to Expect in the ER

It is crucial to know that standard Emergency Room doctors may not be familiar with Leigh syndrome. When you arrive at the ER:

  1. Hand them your Emergency Protocol Letter immediately.
  2. Inform the triage nurse that a “metabolic crisis” is a life-threatening emergency.
  3. Request that the ER physician consults your metabolic geneticist on call immediately.
  4. Remind them of contraindicated medications (like Propofol or Valproic acid) [4].

Focus on Quality of Life and Support

In a condition as complex as Leigh syndrome, managing day-to-day comfort is just as important as medical treatments.

  • Symptom Support: This includes managing muscle tone, ensuring adequate sleep, and preventing pain [11][12].
  • Palliative Care: Often misunderstood, palliative care is not just for the end of life; it is a specialty focused on quality of life and managing complex symptoms like chronic fatigue or breathing discomfort [13]. It also provides crucial support in navigating the terminal nature of infantile-onset forms.
  • Managing “Scan Anxiety”: It is normal to feel intense stress before routine MRIs. Discussing a “stability-focused” mindset with your team can help manage the emotional weight of long-term monitoring [14].
  • Finding Support: The emotional toll of a rare disease can be immense. Connecting with patient advocacy groups like the United Mitochondrial Disease Foundation (UMDF) or MitoAction can provide community, practical advice, and emotional support.

Vetting Your Specialists

When meeting new doctors, you can evaluate their experience with rare mitochondrial diseases by asking:

  1. “How many patients with primary mitochondrial disease do you currently follow?”
  2. “Are you familiar with the specific cardiac or neurological risks associated with this genetic mutation?” [5][15]
  3. “How do you coordinate with the lead geneticist during a metabolic crisis or before a planned surgery?” [4][16]
  4. “What is your protocol for using anesthesia or certain medications that are known to be ‘mitochondria-toxic’?” [4]

By building a knowledgeable and communicative team, you ensure the most current, evidence-based supportive care available [17][18].

Common questions in this guide

Which specialists are needed for a Leigh syndrome care team?
A Leigh syndrome care team is typically led by a metabolic geneticist and a neurologist. Because the condition affects multiple organs, your team should also include a cardiologist, ophthalmologist, gastroenterologist, pulmonologist, and various therapists.
What should I do if a patient with Leigh syndrome goes to the ER?
Immediately hand the ER staff your Emergency Protocol Letter and inform them that a metabolic crisis is a life-threatening emergency. You should also request that the ER doctor consults your metabolic geneticist right away to avoid giving mitochondria-toxic medications.
Why is palliative care recommended for Leigh syndrome?
Palliative care focuses on maximizing day-to-day comfort and quality of life, rather than just end-of-life care. These specialists are experts in managing complex symptoms like chronic fatigue, pain, and breathing discomfort associated with mitochondrial diseases.
What questions should I ask a new doctor about Leigh syndrome?
You should ask how many patients with primary mitochondrial diseases they currently treat and how they coordinate with a lead geneticist during a crisis. It is also critical to ask about their protocol for using anesthesia or medications that are known to be toxic to mitochondria.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many patients with Leigh syndrome or primary mitochondrial disease have you treated?
  2. 2.Are you familiar with the Mitochondrial Medicine Society (MMS) consensus guidelines for surveillance and management?
  3. 3.How do you coordinate with other specialists on the team to ensure the 'mitochondrial cocktail' or emergency protocols are consistent?
  4. 4.What specific experience do you have in managing movement disorders like dystonia or ataxia in patients with metabolic conditions?
  5. 5.Are you involved in any current mitochondrial research networks or clinical trials?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
  1. 1

    A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.

    Meldau S, Ackermann S, Riordan G, et al.

    Molecular genetics and metabolism reports 2024; (39()):101078 doi:10.1016/j.ymgmr.2024.101078.

    PMID: 38571879
  2. 2

    [An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society].

    Guo Y, Hong SQ, Jiang L

    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(11)):887-892.

    PMID: 30477617
  3. 3

    Leigh syndrome.

    Rahman S

    Handbook of clinical neurology 2023; (194()):43-63 doi:10.1016/B978-0-12-821751-1.00015-4.

    PMID: 36813320
  4. 4

    Endocrine Manifestations and New Developments in Mitochondrial Disease.

    Ng YS, Lim AZ, Panagiotou G, et al.

    Endocrine reviews 2022; (43(3)):583-609 doi:10.1210/endrev/bnab036.

    PMID: 35552684
  5. 5

    Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.

    Hendrix CLF, van den Heuvel FMA, Rodwell L, et al.

    Molecular genetics and metabolism 2022; (136(3)):219-225 doi:10.1016/j.ymgme.2022.05.004.

    PMID: 35659503
  6. 6

    Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

    Shimura M, Onuki T, Sugiyama Y, et al.

    Mitochondrion 2022; (63()):1-8 doi:10.1016/j.mito.2021.12.005.

    PMID: 34933128
  7. 7

    Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.

    McElnea EM, Pick ZS, Smyth AC, et al.

    American journal of ophthalmology case reports 2021; (22()):101073 doi:10.1016/j.ajoc.2021.101073.

    PMID: 33869891
  8. 8

    Clinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.

    Othmani NB, Mathew S

    Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2025; (39(4)):416-418 doi:10.4103/sjopt.sjopt_314_24.

    PMID: 41367844
  9. 9

    Deep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.

    Villa-Villegas L, Lira-Jaime LG, Farías-Moreno KC, et al.

    Tremor and other hyperkinetic movements (New York, N.Y.) 2025; (15()):32 doi:10.5334/tohm.1017.

    PMID: 40717768
  10. 10

    Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

    Martikainen MH, Ng YS, Gorman GS, et al.

    JAMA neurology 2016; (73(6)):668-74 doi:10.1001/jamaneurol.2016.0355.

    PMID: 27111573
  11. 11

    Associations of quality of life with health-related characteristics among children with autism.

    Kuhlthau KA, McDonnell E, Coury DL, et al.

    Autism : the international journal of research and practice 2018; (22(7)):804-813 doi:10.1177/1362361317704420.

    PMID: 28691502
  12. 12

    Fatigue in young people with Duchenne muscular dystrophy.

    El-Aloul B, Speechley KN, Wei Y, et al.

    Developmental medicine and child neurology 2020; (62(2)):245-251 doi:10.1111/dmcn.14248.

    PMID: 30980541
  13. 13

    Home Milrinone in Pediatric Hospice Care of Children with Heart Failure.

    Hollander SA, Wujcik K, Schmidt J, et al.

    Journal of pain and symptom management 2023; (65(3)):216-221 doi:10.1016/j.jpainsymman.2022.11.014.

    PMID: 36417945
  14. 14

    Do parents and children agree on rating a child's HRQOL? A systematic review and Meta-analysis of comparisons between children with attention deficit hyperactivity disorder and children with typical development using the PedsQLTM.

    Lee YC, Yang HJ, Lee WT, Teng MJ

    Disability and rehabilitation 2019; (41(3)):265-275 doi:10.1080/09638288.2017.1391338.

    PMID: 29057670
  15. 15

    Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome.

    Solis A, Shimony J, Shinawi M, Barton KT

    Clinical hypertension 2023; (29(1)):7 doi:10.1186/s40885-022-00231-4.

    PMID: 36855210
  16. 16

    Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report.

    Yamamoto T, Miyazawa N, Yamamoto S, Kawahara H

    Anesthesia progress 2017; (64(4)):235-239 doi:10.2344/anpr-64-03-06.

    PMID: 29200367
  17. 17

    Comprehensive Iranian guidelines for the diagnosis and management of mitochondrial disorders: an evidence- and consensus-based approach.

    Dalili S, Rostampour N, Mousavi ST, et al.

    Orphanet journal of rare diseases 2025; (20(1)):623 doi:10.1186/s13023-025-04127-y.

    PMID: 41420182
  18. 18

    Leigh syndrome global patient registry: uniting patients and researchers worldwide.

    Zilber S, Woleben K, Johnson SC, et al.

    Orphanet journal of rare diseases 2023; (18(1)):264 doi:10.1186/s13023-023-02886-0.

    PMID: 37667390

This guide on building a Leigh syndrome care team is for informational purposes only. Always consult your metabolic geneticist and primary neurologist to establish personalized medical and emergency care plans.

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